Literature DB >> 3658338

Autosomal recessive juvenile cataract in Hutterites.

W G Pearce1, J A Mackay, T M Holmes, K Morgan, S B Fowlow, M H Shokeir, R B Lowry.   

Abstract

Autosomal recessive inheritance of juvenile cataract is described amongst several related sibships of Lehrerleut Hutterites. The main features of the cataract include onset between three and seven years of age; rapid progression to maturity within one to three months; normal intelligence; no systemic associations, and no urinary reducing substances and normal erythrocyte galactokinase activity. Genetic analysis demonstrates the close relationship between parents of affected sibships with a coefficient of inbreeding of affected sibships of 0.0512. Estimates of heterozygote frequency within Lehrerleut Hutterites at 0.128 indicate that if current inbreeding practice continues additional cases can be expected.

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Year:  1987        PMID: 3658338     DOI: 10.3109/13816818709028527

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN: 0167-6784


  4 in total

1.  Genealogical analysis of cystic fibrosis families and chromosome 7q RFLP haplotypes in the Hutterite Brethren.

Authors:  T M Fujiwara; K Morgan; R H Schwartz; R A Doherty; S R Miller; K Klinger; P Stanislovitis; N Stuart; P C Watkins
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

2.  Cystic fibrosis mutations in the Hutterite Brethren.

Authors:  K Klinger; G T Horn; P Stanislovitis; R H Schwartz; T M Fujiwara; K Morgan
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

3.  Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.

Authors:  Philip M Boone; Bo Yuan; Shen Gu; Zhiwei Ma; Tomasz Gambin; Claudia Gonzaga-Jauregui; Mahim Jain; Todd J Murdock; Janson J White; Shalini N Jhangiani; Kimberly Walker; Qiaoyan Wang; Donna M Muzny; Richard A Gibbs; J Fielding Hejtmancik; James R Lupski; Jennifer E Posey; Richard A Lewis
Journal:  Mol Genet Genomic Med       Date:  2015-11-14       Impact factor: 2.183

4.  Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2.

Authors:  Nelly Abdelfatah; Ruping Chen; Henry J Duff; Colette M Seifer; Ilan Buffo; Cathleen Huculak; Stephanie Clarke; Robin Clegg; Davinder S Jassal; Paul M K Gordon; Carole Ober; Patrick Frosk; Brenda Gerull
Journal:  JACC Basic Transl Sci       Date:  2019-04-29
  4 in total

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